Cathcart Sahara J, Klug Jeffrey R, Helvey Jason T, L White Matthew, Gard Andrew P, McComb Rodney D
Departments of *Pathology and Microbiology †Radiology, University of Nebraska Medical Center, Omaha, NE ‡Division of Neuroradiology §Surgery, Divisions of Neurosurgery ∥Pathology and Microbiology, Division of Neuropathology, University of Nebraska Medical Center, Omaha, NE.
Am J Surg Pathol. 2017 Jul;41(7):1005-1010. doi: 10.1097/PAS.0000000000000868.
Multinodular and vacuolating neuronal tumor is a recently described seizure-associated entity with overlapping features of a malformative and neoplastic process. We report a case of multinodular and vacuolating neuronal tumor in a 29-year-old man with a history of recent headaches and complex partial seizures. Neuroimaging revealed a nonenhancing, T2 and T2 fluid-attenuated inversion recovery hyperintense multinodular lesion in the right temporal lobe. Lesional tissue demonstrated well-demarcated nodules of ganglioid cells with vacuolation of both the perikarya and the fibrillary neuropil-like background. The ganglioid cells showed weak cytoplasmic reactivity for synaptophysin and were nonreactive for neurofilament and chromogranin. CD34-positive stellate cells were present within the nodules. A 50-gene next-generation sequencing panel did not identify any somatic mutations in genomic DNA extracted from the tumor.
多结节空泡状神经元肿瘤是一种最近描述的与癫痫发作相关的实体,具有发育异常和肿瘤形成过程的重叠特征。我们报告一例29岁男性的多结节空泡状神经元肿瘤,该患者有近期头痛和复杂部分性癫痫发作史。神经影像学检查显示右侧颞叶有一个无强化的、T2加权像及液体衰减反转恢复序列呈高信号的多结节病变。病变组织显示界限清楚的神经节样细胞结节,核周体和纤维性神经毡样背景均有空泡形成。神经节样细胞突触素免疫反应性较弱,神经丝蛋白和嗜铬粒蛋白无反应。结节内可见CD34阳性的星状细胞。从肿瘤中提取的基因组DNA经50基因下一代测序 panel检测未发现任何体细胞突变。